M. C. Patterson

Research output: Chapter in Book/Report/Conference proceedingChapter


The gangliosidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes (or their activator protein partners) that catabolize glycosphingolipids known as gangliosides. The disorders are named according to the dominant species of accumulating ganglioside (i.e., GM1 or GM2). The most severe phenotypes present as rapidly progressive neurodegenerative disorders in infancy; cherry-red spots occur in both GM1 and GM2 gangliosidosis. Less profound enzyme deficiencies present later in life with less severe, fragmentary phenotypes that may mimic other diseases, such as spinocerebellar degenerations.

Original languageEnglish (US)
Title of host publicationEncyclopedia of the Neurological Sciences
PublisherElsevier Inc.
Number of pages2
ISBN (Electronic)9780123851574
ISBN (Print)9780123851581
StatePublished - Jan 1 2014


  • Activator protein
  • Cherry-red spot
  • Gangliosides
  • Gangliosidoses
  • GM1
  • GM2
  • GM3
  • Hexosaminidase
  • I'-Galactosidase
  • Lysosomal storage disease
  • Morquio B
  • Sandhoff
  • Tay-Sachs

ASJC Scopus subject areas

  • Medicine(all)


Dive into the research topics of 'Gangliosidoses'. Together they form a unique fingerprint.

Cite this